CATIP-AS2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 1898949	NM_015488.5(PNKD):c.237-8707G>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1600301	NM_015488.5(PNKD):c.237-8707G>A	PNKD, CATIP-AS2	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GBenign
Select item 1209167	NM_015488.5(PNKD):c.237-219C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260659	NM_015488.5(PNKD):c.237-31G>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2867918	NM_015488.5(PNKD):c.237-14C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2051988	NM_015488.5(PNKD):c.237-11T>C	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2090481	NM_015488.5(PNKD):c.237-10C>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1103905	NM_015488.5(PNKD):c.237-10C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 415731	NM_015488.5(PNKD):c.237-9G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GBenign/Likely benign
Select item 2789101	NM_015488.5(PNKD):c.237-4C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 968369	NM_015488.5(PNKD):c.243C>G (p.Ser81Arg)	CATIP-AS2, PNKD (S57R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 468626	NM_015488.5(PNKD):c.246G>A (p.Leu82=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 3027210	NM_015488.5(PNKD):c.252_253dup (p.Arg85fs)	CATIP-AS2, PNKD (R61fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2163299	NM_015488.5(PNKD):c.251C>T (p.Thr84Ile)	CATIP-AS2, PNKD (T84I +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1515238	NM_015488.5(PNKD):c.253C>T (p.Arg85Cys)	CATIP-AS2, PNKD (R61C +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 334309	NM_015488.5(PNKD):c.254G>A (p.Arg85His)	PNKD, CATIP-AS2 (R85H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2998876	NM_015488.5(PNKD):c.257C>T (p.Thr86Ile)	CATIP-AS2, PNKD (T86I +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1141249	NM_015488.5(PNKD):c.264C>T (p.Leu88=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 334310	NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)	CATIP-AS2, PNKD (G89R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GBenign/Likely benign
Select item 2097445	NM_015488.5(PNKD):c.266G>C (p.Gly89Ala)	CATIP-AS2, PNKD (G89A +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1444365	NM_015488.5(PNKD):c.268dup (p.Tyr90fs)	CATIP-AS2, PNKD (Y66fs +1 more)	Duplication (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2263834	NM_015488.5(PNKD):c.269A>G (p.Tyr90Cys)	CATIP-AS2, PNKD (Y90C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1131324	NM_015488.5(PNKD):c.273C>T (p.Leu91=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1443211	NM_015488.5(PNKD):c.280C>A (p.Arg94=)	PNKD, CATIP-AS2	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 946965	NM_015488.5(PNKD):c.280C>T (p.Arg94Ter)	CATIP-AS2, PNKD (R70* +1 more)	Single nucleotide variant (nonsense)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 649687	NM_015488.5(PNKD):c.281G>A (p.Arg94Gln)	CATIP-AS2, PNKD (R94Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2797643	NM_015488.5(PNKD):c.292C>A (p.Arg98Ser)	CATIP-AS2, PNKD (R98S +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1328199	NM_015488.5(PNKD):c.293G>A (p.Arg98His)	CATIP-AS2, PNKD (R74H +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 654532	NM_015488.5(PNKD):c.293G>T (p.Arg98Leu)	CATIP-AS2, PNKD (R74L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GConflicting classifications of pathogenicity
Select item 432158	NM_015488.5(PNKD):c.293G>C (p.Arg98Pro)	PNKD, CATIP-AS2 (R98P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 334311	NM_015488.5(PNKD):c.299C>T (p.Ala100Val)	CATIP-AS2, PNKD (A100V +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 468628	NM_015488.5(PNKD):c.301C>T (p.Arg101Trp)	CATIP-AS2, PNKD (R101W +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1009575	NM_015488.5(PNKD):c.302G>C (p.Arg101Pro)	PNKD, CATIP-AS2 (R101P +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 334312	NM_015488.5(PNKD):c.302G>A (p.Arg101Gln)	PNKD, CATIP-AS2 (R101Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GUncertain significance
Select item 837794	NM_015488.5(PNKD):c.307C>T (p.Arg103Cys)	CATIP-AS2, PNKD (R103C +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1016709	NM_015488.5(PNKD):c.308G>A (p.Arg103His)	CATIP-AS2, PNKD (R103H +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2741171	NM_015488.5(PNKD):c.312_316del (p.Tyr104_Lys106delinsTer)	CATIP-AS2, PNKD	Deletion (nonsense)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1143349	NM_015488.5(PNKD):c.309C>A (p.Arg103=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2151298	NM_015488.5(PNKD):c.311A>T (p.Tyr104Phe)	PNKD, CATIP-AS2 (Y80F +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2713470	NM_015488.5(PNKD):c.312C>A (p.Tyr104Ter)	CATIP-AS2, PNKD (Y80* +1 more)	Single nucleotide variant (nonsense)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2702344	NM_015488.5(PNKD):c.314C>T (p.Pro105Leu)	CATIP-AS2, PNKD (P81L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1698915	NM_015488.5(PNKD):c.318A>T (p.Lys106Asn)	CATIP-AS2, PNKD (K106N +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 1468422	NM_015488.5(PNKD):c.320G>T (p.Gly107Val)	CATIP-AS2, PNKD (G83V +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1378001	NM_015488.5(PNKD):c.320G>C (p.Gly107Ala)	CATIP-AS2, PNKD (G83A +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 697787	NM_015488.5(PNKD):c.321C>T (p.Gly107=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GBenign
Select item 946626	NM_015488.5(PNKD):c.322C>A (p.His108Asn)	PNKD, CATIP-AS2 (H108N +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 377052	NM_015488.5(PNKD):c.323A>G (p.His108Arg)	CATIP-AS2, PNKD (H108R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 665073	NM_015488.5(PNKD):c.326C>T (p.Ser109Leu)	CATIP-AS2, PNKD (S109L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1646853	NM_015488.5(PNKD):c.327G>A (p.Ser109=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 334313	NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)	PNKD, CATIP-AS2 (T111A +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1130719	NM_015488.5(PNKD):c.333C>G (p.Thr111=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 800259	NM_015488.5(PNKD):c.340C>T (p.Arg114Cys)	CATIP-AS2, PNKD (R114C +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GLikely benign
Select item 895492	NM_015488.5(PNKD):c.341G>A (p.Arg114His)	CATIP-AS2, PNKD (R90H +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 2628642	NM_015488.5(PNKD):c.343C>G (p.Leu115Val)	CATIP-AS2, PNKD (L115V +1 more)	Single nucleotide variant (missense variant)	PNKD-related disorder	GUncertain significance
Select item 855050	NM_015488.5(PNKD):c.348C>G (p.Phe116Leu)	CATIP-AS2, PNKD (F116L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 468629	NM_015488.5(PNKD):c.350A>G (p.Asn117Ser)	CATIP-AS2, PNKD (N117S +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GBenign
Select item 2193338	NM_015488.5(PNKD):c.352+13_352+15del	CATIP-AS2, PNKD	Deletion (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 334314	NM_015488.5(PNKD):c.352+12C>T	PNKD, CATIP-AS2	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GBenign
Select item 2146382	NM_015488.5(PNKD):c.352+18C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1528410	NM_015488.5(PNKD):c.352+19G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GBenign
Select item 260661	NM_015488.5(PNKD):c.353-26C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 260660	NM_015488.5(PNKD):c.353-24C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1620052	NM_015488.5(PNKD):c.353-16C>A	PNKD, CATIP-AS2	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1391567	NM_015488.5(PNKD):c.353-9T>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1024882	NM_015488.5(PNKD):c.353-6C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2817644	NM_015488.5(PNKD):c.353-2A>G	CATIP-AS2, PNKD	Single nucleotide variant (splice acceptor variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2717737	NM_015488.5(PNKD):c.356T>C (p.Val119Ala)	CATIP-AS2, PNKD (V119A +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1582579	NM_015488.5(PNKD):c.357G>A (p.Val119=)	PNKD, CATIP-AS2	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2124321	NM_015488.5(PNKD):c.359A>G (p.Lys120Arg)	CATIP-AS2, PNKD (K120R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2123953	NM_015488.5(PNKD):c.369dup (p.Ile124fs)	CATIP-AS2, PNKD (I100fs +1 more)	Duplication (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2065535	NM_015488.5(PNKD):c.369del (p.Ile124fs)	CATIP-AS2, PNKD (I124fs +1 more)	Deletion (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 895493	NM_015488.5(PNKD):c.368C>T (p.Pro123Leu)	CATIP-AS2, PNKD (P99L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 536501	NM_015488.5(PNKD):c.370A>G (p.Ile124Val)	CATIP-AS2, PNKD (I124V +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1004107	NM_015488.5(PNKD):c.371T>C (p.Ile124Thr)	CATIP-AS2, PNKD (I100T +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 838816	NM_015488.5(PNKD):c.371T>A (p.Ile124Asn)	CATIP-AS2, PNKD (I124N +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1648645	NM_015488.5(PNKD):c.375T>C (p.Pro125=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1931004	NM_015488.5(PNKD):c.382T>C (p.Ser128Pro)	CATIP-AS2, PNKD (S104P +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 468630	NM_015488.5(PNKD):c.383C>T (p.Ser128Leu)	CATIP-AS2, PNKD (S128L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2048017	NM_015488.5(PNKD):c.384G>C (p.Ser128=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 961113	NM_015488.5(PNKD):c.384G>A (p.Ser128=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1026933	NM_015488.5(PNKD):c.391T>C (p.Tyr131His)	CATIP-AS2, PNKD (Y107H +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2980720	NM_015488.5(PNKD):c.392A>G (p.Tyr131Cys)	CATIP-AS2, PNKD (Y131C +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2444579	NM_015488.5(PNKD):c.394A>G (p.Ser132Gly)	CATIP-AS2, PNKD (S108G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 660281	NM_015488.5(PNKD):c.404T>C (p.Ile135Thr)	CATIP-AS2, PNKD (I111T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3014808	NM_015488.5(PNKD):c.408C>T (p.Ile136=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1042649	NM_015488.5(PNKD):c.408C>G (p.Ile136Met)	CATIP-AS2, PNKD (I136M +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 653927	NM_015488.5(PNKD):c.409G>A (p.Asp137Asn)	CATIP-AS2, PNKD (D137N +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1148736	NM_015488.5(PNKD):c.414C>G (p.Thr138=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1949391	NM_015488.5(PNKD):c.415C>G (p.Gln139Glu)	CATIP-AS2, PNKD (Q115E +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 651066	NM_015488.5(PNKD):c.415C>T (p.Gln139Ter)	CATIP-AS2, PNKD (Q115* +1 more)	Single nucleotide variant (nonsense)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1419315	NM_015488.5(PNKD):c.419C>T (p.Ala140Val)	CATIP-AS2, PNKD (A116V +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2964238	NM_015488.5(PNKD):c.427G>T (p.Ala143Ser)	CATIP-AS2, PNKD (A143S +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2726553	NM_015488.5(PNKD):c.427G>C (p.Ala143Pro)	CATIP-AS2, PNKD (A143P +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance

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